SGCE p.Val37fs
c.107_108insCTGCGCGC · VCV4896896
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
SGCE-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 1 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.7 | GERP 1.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- SGCE
- Protein
- p.Val37fs
- Coding
- c.107_108insCTGCGCGC
- MANE Select
- NM_003919
- Type
- Microsatellite
- Location
- chr7:94655991 (GRCh38)
- Gene constraint
- LOEUF 0.628 · pLI 0.32 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 74.19
Disease context
SGCE-related disorder
Similar variants
- SGCE p.Val37Met Uncertain significance ★★ ⚠ same residue
- SGCE p.Thr22fs Likely pathogenic ★ same condition
- SGCE c.109+13CG[2] Likely benign ★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/sgce-p-val37fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown